V30L (p.Val30Leu) variant of JMJD4 (Q9H9V9)
V30L (p.Val30Leu) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- gnomAD rs1382921912
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.03
- MetaSVM -1.07
- CADD 21.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available